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8 in total

1. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Authors: Yousheng Yan; Chuan Zhang; Xiaohua Jin; Qinhua Zhang; Lei Zheng; Xuan Feng; Shengju Hao; Huafang Gao; Xu Ma
Journal: Metab Brain Dis Date: 2019-02-12 Impact factor: 3.584

Review 2. Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision.

Authors: Yanqin Lu; Qingxia Gao; Xiuzhi Ren; Junfeng Li; Dan Yang; Zijian Zhang; Jinxiang Han
Journal: Intractable Rare Dis Res Date: 2022-08

3. Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

Authors: Xin Wang; Yanyun Wang; Dingyuan Ma; Zhilei Zhang; Yahong Li; Peiying Yang; Yun Sun; Tao Jiang
Journal: Orphanet J Rare Dis Date: 2021-05-12 Impact factor: 4.123

4. Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.

Authors: Jun Ye; Chao Chen; Yuan Yuan; Lianshu Han; Yaoshen Wang; Wenjuan Qiu; Huiwen Zhang; Xuefan Gu
Journal: Sci Rep Date: 2018-01-09 Impact factor: 4.379

5. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Authors: Jinshuang Gao; Xiaole Li; Yaqing Guo; Haiyang Yu; Liying Song; Yang Fang; Erfeng Yuan; Qianqian Shi; Dehua Zhao; Enwu Yuan; Linlin Zhang
Journal: Hum Genomics Date: 2022-07-22 Impact factor: 6.481

6. Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.

Authors: Jun Ye; Wen-Juan Qiu; Lian-Shu Han; Hui-Wen Zhang; Xue-Fan Gu
Journal: Chin Med J (Engl) Date: 2015-11-05 Impact factor: 2.628

7. Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Authors: Ting Chen; Weize Xu; Dingwen Wu; Jiamin Han; Ling Zhu; Fan Tong; Rulai Yang; Zhengyan Zhao; Pingping Jiang; Qiang Shu
Journal: Sci Rep Date: 2018-11-20 Impact factor: 4.379

8. Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Authors: Lin Wang; JinHua He; Rong Qiang; Wei Jie Xu; Wei Li; Na Cai; Xiao Bin Wang; RuiXue Zhang; Li Ping Zhang; Xiao Ping Ma; Chen Wei; ChengRong Song; WenWen Yu; Xiang Wang; Xu Li
Journal: Biosci Rep Date: 2021-02-26 Impact factor: 3.840

8 in total